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Platinum Open Access

This Platinum Open Access journal publishes articles totally free of charge for the authors and provides unrestricted access to the published content through its website and open access repositories such as PubMed Central. All related costs for processing of the manuscripts are sponsored by Tabriz University of Medical Sciences.

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J Cardiovasc Thorac Res. 2018;10(1): 41-45. doi: 10.15171/jcvtr.2018.07

PMID: 29707177 PMCID: PMC5913692

Original Article

Identification of a novel non-sense mutation in TBX5 gene in pediatric patients with congenital heart defects

Mehri Khatami ¹ * , Mohammad Mehdi Heidari ¹, Fatemeh Kazeminasab ¹, Razieh Zare Bidaki ¹

Cited by CrossRef: 6

1- Dianatpour S, Khatami M, Heidari M, Hadadzadeh M. Novel Point Mutations of CITED2 Gene Are Associated with Non-familial Congenital Heart Disease (CHD) in Sporadic Pediatric Patients. Appl Biochem Biotechnol. 2020;190(3):896 [Crossref]

2- Khatami M, Ghorbani S, Adriani M, Bahaloo S, Naeini M, Heidari M, Hadadzadeh M. Novel Point Mutations in 3′-Untranslated Region of GATA4 Gene Are Associated with Sporadic Non-syndromic Atrial and Ventricular Septal Defects. CURR MED SCI. 2022;42(1):129 [Crossref]

3- Martin K, Waxman J. Atrial and Sinoatrial Node Development in the Zebrafish Heart. JCDD. 2021;8(2):15 [Crossref]

4- Sarwar S, Sarwar S, Tahir A, Liaqat Z, Naseer S, Seme R, Mehmood S, Shahid S, Hasnain S. Study of variants associated with ventricular septal defects (VSDs) highlights the unique genetic structure of the Pakistani population. Ital J Pediatr. 2022;48(1) [Crossref]

5- Tabrizi F, Khatami M, Heidari M, Bragança J, Tatari H, Namnabat M, Hadadzadeh M, Navabi Shirazi M. Novel and deleterious nucleotide variations in the HAND1 gene probably affect miRNA target sites and protein function in pediatric patients with congenital heart disease. Mol Biol Rep. 2024;51(1) [Crossref]

6- Zhang X, Liu L, Chen W, Wang F, Cheng Y, Liu Y, Lai Y, Zhang R, Qiao Y, Yuan Y, Lin Y, Xu W, Cao J, Gui Y, Zhao J. Gestational Leucylation Suppresses Embryonic T‐Box Transcription Factor 5 Signal and Causes Congenital Heart Disease. Advanced Science. 2022;9(15) [Crossref]

7- Shafi O, Siddiqui G, Jaffry H. The benign nature and rare occurrence of cardiac myxoma as a possible consequence of the limited cardiac proliferative/ regenerative potential: a systematic review. BMC Cancer. 2023;23(1) [Crossref]

8- Khatami M, Ghazinader D, Ahmadi F, Heidari M, Hadadzadeh M, Namnabat M. Novel missense mutation in NKX2.6 gene (c.389 G > C, Arg130Pro) as a potentially pathogenic variant in pediatric patients with congenital heart disease. Gene Reports. 2023;33:101819 [Crossref]

9- Moghadambarati Z, Khatami M, Heidari M, HadadZadeh M, Ghorbanian R. Genomic and bioinformatics analysis of nucleotide changes in the coding regions of the CCDC103 gene in patients with Tetralogy of Fallot (TOF): A type of Congenital Heart Defects. JBUMS. 2024;31(1):48 [Crossref]